Expert Evaluation of Strategies to Modernize Newborn Screening in the United States.
Expert Evaluation of Strategies to Modernize Newborn Screening in the United States.
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DOI：
10.1001/jamanetworkopen.2021.40998
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发表时间：
2021-12-01
影响因子：
13.8
通讯作者：
Peay HL
中科院分区：
文献类型：
--
作者：
Bailey DB Jr;Porter KA;Andrews SM;Raspa M;Gwaltney AY;Peay HL
针对必须在生命早期提供的变革性治疗数量的迅速增加，主题专家建议采取哪些解决方案来准备新生儿筛查？在这项调查研究中，40名新生儿筛查专家评估了20种潜在的解决方案。评价最高的解决方案解决了跨州差异、全国统一、临床和政策决策所需的数据，以及支持加快各州实施。这些发现表明，为了适应越来越多的变革性治疗，新生儿筛查需要一个协调一致的国家愿景，其中包括有效的解决方案。这项调查研究确定并评估了专家建议的现代化新生儿筛查，为必须在生命早期提供的新疗法数量的快速增加做准备。包括细胞和基因疗法在内的新疗法可以从根本上改善罕见疾病患者的预后，特别是如果及早提供的话。新生儿筛查（NBS）可以支持新疗法的早期获得，但新疗法开发的速度是一个破坏性事件，公共卫生NBS系统和州新生儿筛查项目对此毫无准备。识别和评估国家统计局现代化的可能解决方案。在这项调查研究中，代表临床研究、联邦或州咨询委员会、患者权益团体、行业或州实验室的国家统计局专家完成了一项在线调查，他们考虑了20个国家统计局现代化的潜在解决方案，并对每个解决方案进行了评级。与会者考虑了以下5个领域的20种潜在解决方案：(1)疾病审查的及时性；(2)为目前未纳入国家统计局的新疾病提供筛查的替代机制；(3)扩大数据收集；(4)对各州的支持；(5)新兴的筛查方法及其后果。每个解决方案在有效性、可接受性、可行性和可持续性方面的平均评分。调查由40名国家统计局专家完成（年龄中位数[范围]54岁[37-73]岁，女性22名[55.0%]）。与会者承认，需要进行实质性的改革，以使NBS系统为新疗法的快速扩展做好准备；在0（没有变化）到10（广泛变化）的范围内，中位数（范围）得分为8(2-10)，18名受访者（45.0%）认为国家统计局将需要许多新的组成部分或一个全新的系统来适应这些变化。至少有23名受访者（57.5%）认为所有现代化解决方案都可能有效。最受支持的两项是建立临时疾病跨州数据协调机制（38名受访者[95.0%]）和建立区域筛查实验室网络（36名受访者[90.0%]）。紧随其后的是协调联邦机构之间的项目（35个[87.5%]），扩大研究资金（34个[85.0%]），扩大对各州的资金（34个[85.0%]），建立识别基因变异和相关临床数据库的能力（34个[85.0%]），以及开展监测以研究长期结果（34个[85.0%]）。在这项研究中，专家们一致认为，如果NBS系统要为变革性疗法的快速增长做好准备，就需要进行改革。据我们所知，这是国家统计局现代化的潜在解决方案的第一个系统清单，以及专家对每个解决方案的看法。研究结果表明，国家统计局的现代化将需要整合高评价的解决方案、战略规划和多个利益相关者之间的协调。
What solutions do subject matter experts recommend to prepare newborn screening for a rapid increase in the number of transformative therapies that must be provided early in life? In this survey study, 40 experts in newborn screening evaluated 20 potential solutions. The highest rated solutions addressed cross-state variability, national harmonization, data needed for clinical and policy decisions, and support to expedite state implementation. These findings suggest that a coordinated national vision that incorporates effective solutions will be needed for newborn screening to accommodate an increasing number of transformative therapies. This survey study identifies and evaluates expert recommendations for modernizing newborn screening in preparation for rapid increases in the number of novel therapies that must be provided early in life. Novel therapies, including cell and gene therapies, can radically improve outcomes among patients with rare disorders, especially if provided early. Newborn screening (NBS) could support early access to novel therapies, but the speed of new therapy development is a disruptive event for which the public health NBS system and state newborn screening programs are unprepared. To identify and evaluate possible solutions for modernizing NBS. In this survey study, NBS experts representing clinical research, federal or state advisory boards, patient advocacy groups, industry, or state laboratories completed an online survey in which they considered 20 potential solutions for modernizing NBS and rated each. Participants considered 20 potential solutions in the 5 following domains: (1) timeliness of disorder review, (2) alternative mechanisms to offer screening for new disorders not currently part of NBS, (3) expanded data collection, (4) support for states, and (5) emerging methods of screening and their consequences. Mean ratings for each solution on efficacy, acceptability, feasibility, and sustainability. The survey was completed by 40 NBS experts (median [range] age, 54 [37-73] years; 22 [55.0%] women). Participants acknowledged that substantial change is needed to prepare the NBS system for rapid expansion of novel therapies; on a scale of 0 (no change) to 10 (extensive change), the median (range) score was 8 (2-10), with 18 respondents (45.0%) believing that the NBS would need many new components or an entirely new system to accommodate the changes. All solutions for modernization were considered potentially efficacious by at least 23 respondents (57.5%). The 2 most strongly endorsed were to establish mechanisms for cross-state data coordination for provisional disorders (38 respondents [95.0%]) and create a network of regional screening laboratories (36 [90.0%]). These were closely followed by aligning programs across federal agencies (35 [87.5%]), expanding funding for research (34 [85.0%]), expanding funding to states (34 [85.0%]), building capacity to identify genetic variants and an associated clinical database (34 [85.0%]), and conducting surveillance to study long-term outcomes (34 [85.0%]). In this study, there was consensus among experts that NBS needs to change if the system is to be prepared for a rapid increase in transformative therapies. To our knowledge, this is the first systematic inventory of potential solutions for modernizing NBS and expert perceptions of each. The findings suggest that the modernization of NBS will require the integration of highly rated solutions, strategic planning, and coordination among multiple stakeholders.
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影响因子：
8.8
作者：
Kemper, Alex R.;Green, Nancy S.;Bocchini, Joseph A., Jr.
通讯作者：
Bocchini, Joseph A., Jr.
影响因子：
64.5
作者：
Denny, Joshua C.;Collins, Francis S.
通讯作者：
Collins, Francis S.
影响因子：
3.5
作者：
Kellar-Guenther, Yvonne;McKasson, Sarah;Ojodu, Jelili
通讯作者：
Ojodu, Jelili
影响因子：
3.8
作者：
Lowes, Linda P.;Alfano, Lindsay N.;Mendell, Jerry
通讯作者：
Mendell, Jerry
DOI：
10.1001/jama.2014.17488
发表时间：
2015-04-21
期刊：
JAMA
影响因子：
--
作者：
Bailey DB Jr;Gehtland L
通讯作者：
Gehtland L